Incidental Mutation 'R9647:Trpm5'
| ID |
726805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Trpm5
|
| Ensembl Gene |
ENSMUSG00000009246 |
| Gene Name |
transient receptor potential cation channel, subfamily M, member 5 |
| Synonyms |
Ltrpc5, 9430099A16Rik, Mtr1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R9647 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
142625266-142648379 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142634498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 683
(D683V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009390]
[ENSMUST00000150867]
|
| AlphaFold |
Q9JJH7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000009390
AA Change: D683V
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246
AA Change: D683V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
382 |
411 |
2e-6 |
BLAST |
|
transmembrane domain
|
644 |
666 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
736 |
989 |
1.2e-11 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150867
AA Change: D683V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114302
Gene: ENSMUSG00000009246
AA Change: D683V
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:ANK
|
382 |
411 |
2e-6 |
BLAST |
|
transmembrane domain
|
644 |
666 |
N/A |
INTRINSIC |
|
transmembrane domain
|
731 |
753 |
N/A |
INTRINSIC |
|
transmembrane domain
|
811 |
833 |
N/A |
INTRINSIC |
|
transmembrane domain
|
872 |
894 |
N/A |
INTRINSIC |
|
transmembrane domain
|
952 |
974 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transient receptor potential (TRP) protein family, which is a diverse group of proteins with structural features typical of ion channels. This protein plays an important role in taste transduction, and has characteristics of a calcium-activated, non-selective cation channel that carries Na+, K+, and Cs+ ions equally well, but not Ca(2+) ions. It is activated by lower concentrations of intracellular Ca(2+), and inhibited by higher concentrations. It is also a highly temperature-sensitive, heat activated channel showing a steep increase of inward currents at temperatures between 15 and 35 degrees Celsius. This gene is located within the Beckwith-Wiedemann syndrome critical region-1 on chromosome 11p15.5, and has been shown to be imprinted, with exclusive expression from the paternal allele. [provided by RefSeq, Oct 2010]
PHENOTYPE: Homozygous mutant mice demonstrate abnormal taste perception, responding to sour and salty stimuli but not to sweet, or bitter stimuli. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,195,310 (GRCm39) |
R729L |
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,037,408 (GRCm39) |
S295P |
probably benign |
Het |
| Alb |
G |
A |
5: 90,620,544 (GRCm39) |
|
probably null |
Het |
| Ank2 |
T |
A |
3: 126,792,623 (GRCm39) |
N756I |
possibly damaging |
Het |
| Ankar |
A |
G |
1: 72,689,307 (GRCm39) |
Y1275H |
probably damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
| Birc6 |
G |
A |
17: 74,999,305 (GRCm39) |
V4678M |
probably damaging |
Het |
| Bmpr1a |
A |
G |
14: 34,136,694 (GRCm39) |
V499A |
probably benign |
Het |
| Ccdc142 |
A |
G |
6: 83,079,259 (GRCm39) |
N199D |
probably benign |
Het |
| Ccdc179 |
G |
T |
7: 51,663,311 (GRCm39) |
Y38* |
probably null |
Het |
| Cdhr2 |
A |
T |
13: 54,867,394 (GRCm39) |
M438L |
probably benign |
Het |
| Cfap74 |
A |
T |
4: 155,549,373 (GRCm39) |
Q78L |
unknown |
Het |
| Crocc |
A |
T |
4: 140,774,335 (GRCm39) |
S155T |
probably benign |
Het |
| Depdc5 |
T |
A |
5: 33,081,567 (GRCm39) |
H576Q |
possibly damaging |
Het |
| Dhx30 |
A |
T |
9: 109,922,214 (GRCm39) |
L156Q |
probably damaging |
Het |
| Dido1 |
T |
A |
2: 180,315,068 (GRCm39) |
T795S |
probably benign |
Het |
| Dlx1 |
T |
C |
2: 71,360,476 (GRCm39) |
S47P |
probably benign |
Het |
| Dspp |
G |
A |
5: 104,323,636 (GRCm39) |
A260T |
possibly damaging |
Het |
| Ephx2 |
T |
C |
14: 66,326,957 (GRCm39) |
T413A |
probably benign |
Het |
| Erp44 |
A |
C |
4: 48,205,166 (GRCm39) |
L276V |
probably benign |
Het |
| Fastkd5 |
T |
A |
2: 130,457,729 (GRCm39) |
Q287L |
probably damaging |
Het |
| Foxh1 |
T |
A |
15: 76,553,460 (GRCm39) |
H114L |
possibly damaging |
Het |
| Fry |
A |
T |
5: 150,292,984 (GRCm39) |
L410F |
probably damaging |
Het |
| Gamt |
T |
A |
10: 80,095,672 (GRCm39) |
H86L |
probably damaging |
Het |
| Gdpd5 |
G |
T |
7: 99,104,241 (GRCm39) |
R483L |
probably benign |
Het |
| Gm17067 |
A |
C |
7: 42,357,569 (GRCm39) |
V311G |
probably benign |
Het |
| Gpatch2 |
C |
T |
1: 187,054,542 (GRCm39) |
T422I |
probably damaging |
Het |
| Gpi1 |
A |
G |
7: 33,901,879 (GRCm39) |
I546T |
probably damaging |
Het |
| Gyg1 |
A |
C |
3: 20,177,007 (GRCm39) |
S328A |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,441,679 (GRCm39) |
V1491E |
probably benign |
Het |
| Hrob |
A |
T |
11: 102,146,586 (GRCm39) |
Q287H |
possibly damaging |
Het |
| Ildr2 |
T |
C |
1: 166,137,038 (GRCm39) |
S626P |
probably benign |
Het |
| Insr |
T |
G |
8: 3,205,874 (GRCm39) |
E1305A |
probably benign |
Het |
| Iqca1 |
T |
A |
1: 89,998,258 (GRCm39) |
T572S |
probably benign |
Het |
| Kdm4a |
A |
T |
4: 118,003,790 (GRCm39) |
M762K |
probably benign |
Het |
| Kdm4a |
T |
A |
4: 118,017,399 (GRCm39) |
T556S |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,024,170 (GRCm39) |
I89M |
|
Het |
| Larp7 |
T |
C |
3: 127,334,211 (GRCm39) |
K539E |
probably damaging |
Het |
| Mmadhc |
C |
A |
2: 50,186,482 (GRCm39) |
|
probably benign |
Het |
| Mmp2 |
A |
G |
8: 93,567,114 (GRCm39) |
D478G |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,578,538 (GRCm39) |
Q222R |
probably benign |
Het |
| Nlgn1 |
A |
T |
3: 25,488,182 (GRCm39) |
Y718N |
probably damaging |
Het |
| Nlrp5 |
A |
T |
7: 23,107,576 (GRCm39) |
E83V |
probably benign |
Het |
| Odc1 |
T |
C |
12: 17,598,614 (GRCm39) |
V218A |
possibly damaging |
Het |
| Or10al4 |
A |
T |
17: 38,037,796 (GRCm39) |
I294F |
probably damaging |
Het |
| Or11g26 |
G |
C |
14: 50,753,552 (GRCm39) |
R297T |
probably damaging |
Het |
| Or9r3 |
A |
G |
10: 129,948,029 (GRCm39) |
I210T |
probably damaging |
Het |
| Oxsr1 |
G |
A |
9: 119,083,932 (GRCm39) |
S324F |
probably damaging |
Het |
| Pclo |
C |
T |
5: 14,731,788 (GRCm39) |
T304M |
|
Het |
| Pgghg |
A |
G |
7: 140,526,743 (GRCm39) |
R687G |
possibly damaging |
Het |
| Plxna4 |
A |
G |
6: 32,228,044 (GRCm39) |
S521P |
probably damaging |
Het |
| Rasgrp4 |
A |
G |
7: 28,839,917 (GRCm39) |
S172G |
probably damaging |
Het |
| Rora |
A |
G |
9: 69,255,450 (GRCm39) |
D78G |
probably damaging |
Het |
| Sec1 |
G |
T |
7: 45,328,556 (GRCm39) |
R164S |
probably benign |
Het |
| Sesn3 |
A |
G |
9: 14,225,999 (GRCm39) |
N245D |
probably benign |
Het |
| Slc44a5 |
T |
A |
3: 153,953,370 (GRCm39) |
W251R |
possibly damaging |
Het |
| Ssr2 |
T |
C |
3: 88,487,206 (GRCm39) |
V7A |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,151,875 (GRCm39) |
D1912G |
possibly damaging |
Het |
| Tcea2 |
C |
A |
2: 181,322,984 (GRCm39) |
T1N |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,836,018 (GRCm39) |
Y697C |
probably damaging |
Het |
| Tmx4 |
T |
C |
2: 134,481,588 (GRCm39) |
M112V |
probably benign |
Het |
| Tom1 |
G |
T |
8: 75,785,495 (GRCm39) |
A330S |
probably benign |
Het |
| Trip4 |
A |
T |
9: 65,765,616 (GRCm39) |
L361* |
probably null |
Het |
| Trmt9b |
T |
C |
8: 36,979,210 (GRCm39) |
I271T |
probably benign |
Het |
| Trp73 |
T |
G |
4: 154,165,788 (GRCm39) |
T142P |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,667,562 (GRCm39) |
I810V |
probably damaging |
Het |
| Trps1 |
A |
T |
15: 50,524,944 (GRCm39) |
S995R |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,608,269 (GRCm39) |
E17885* |
probably null |
Het |
| Uggt2 |
A |
T |
14: 119,256,312 (GRCm39) |
Y1120N |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 72,104,882 (GRCm39) |
N793K |
probably damaging |
Het |
| Vcf1 |
T |
C |
11: 113,568,146 (GRCm39) |
D103G |
probably damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,463,884 (GRCm39) |
H802R |
probably benign |
Het |
| Vmn2r-ps158 |
T |
C |
7: 42,697,171 (GRCm39) |
C743R |
probably damaging |
Het |
| Zdhhc5 |
A |
T |
2: 84,524,750 (GRCm39) |
M190K |
probably benign |
Het |
| Zfp719 |
A |
T |
7: 43,233,602 (GRCm39) |
N7I |
possibly damaging |
Het |
| Zfp735 |
A |
G |
11: 73,580,600 (GRCm39) |
Y33C |
probably damaging |
Het |
| Zgrf1 |
C |
T |
3: 127,355,251 (GRCm39) |
T159I |
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,760,651 (GRCm39) |
T1325S |
probably benign |
Het |
|
| Other mutations in Trpm5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00309:Trpm5
|
APN |
7 |
142,636,728 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00717:Trpm5
|
APN |
7 |
142,627,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01138:Trpm5
|
APN |
7 |
142,628,306 (GRCm39) |
missense |
probably benign |
|
|
IGL01590:Trpm5
|
APN |
7 |
142,636,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01603:Trpm5
|
APN |
7 |
142,629,338 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01685:Trpm5
|
APN |
7 |
142,636,091 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01878:Trpm5
|
APN |
7 |
142,628,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02533:Trpm5
|
APN |
7 |
142,643,282 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02572:Trpm5
|
APN |
7 |
142,641,613 (GRCm39) |
splice site |
probably benign |
|
|
IGL02750:Trpm5
|
APN |
7 |
142,628,221 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02862:Trpm5
|
APN |
7 |
142,636,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Trpm5
|
UTSW |
7 |
142,638,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Trpm5
|
UTSW |
7 |
142,636,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Trpm5
|
UTSW |
7 |
142,636,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Trpm5
|
UTSW |
7 |
142,636,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Trpm5
|
UTSW |
7 |
142,636,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Trpm5
|
UTSW |
7 |
142,640,613 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0799:Trpm5
|
UTSW |
7 |
142,632,088 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1187:Trpm5
|
UTSW |
7 |
142,628,206 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1373:Trpm5
|
UTSW |
7 |
142,640,579 (GRCm39) |
splice site |
probably benign |
|
|
R1521:Trpm5
|
UTSW |
7 |
142,636,626 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1603:Trpm5
|
UTSW |
7 |
142,638,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1606:Trpm5
|
UTSW |
7 |
142,638,908 (GRCm39) |
nonsense |
probably null |
|
|
R2009:Trpm5
|
UTSW |
7 |
142,641,475 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2437:Trpm5
|
UTSW |
7 |
142,636,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2508:Trpm5
|
UTSW |
7 |
142,642,656 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2516:Trpm5
|
UTSW |
7 |
142,628,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2985:Trpm5
|
UTSW |
7 |
142,636,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3036:Trpm5
|
UTSW |
7 |
142,639,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3037:Trpm5
|
UTSW |
7 |
142,639,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3688:Trpm5
|
UTSW |
7 |
142,632,193 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4156:Trpm5
|
UTSW |
7 |
142,642,792 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4734:Trpm5
|
UTSW |
7 |
142,636,522 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4811:Trpm5
|
UTSW |
7 |
142,633,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Trpm5
|
UTSW |
7 |
142,636,373 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4847:Trpm5
|
UTSW |
7 |
142,641,500 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5055:Trpm5
|
UTSW |
7 |
142,626,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5256:Trpm5
|
UTSW |
7 |
142,636,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5413:Trpm5
|
UTSW |
7 |
142,634,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Trpm5
|
UTSW |
7 |
142,626,966 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6133:Trpm5
|
UTSW |
7 |
142,642,688 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6242:Trpm5
|
UTSW |
7 |
142,626,919 (GRCm39) |
missense |
probably benign |
|
|
R6564:Trpm5
|
UTSW |
7 |
142,626,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Trpm5
|
UTSW |
7 |
142,623,055 (GRCm39) |
unclassified |
probably benign |
|
|
R6703:Trpm5
|
UTSW |
7 |
142,623,055 (GRCm39) |
unclassified |
probably benign |
|
|
R6829:Trpm5
|
UTSW |
7 |
142,623,166 (GRCm39) |
unclassified |
probably benign |
|
|
R6940:Trpm5
|
UTSW |
7 |
142,638,547 (GRCm39) |
nonsense |
probably null |
|
|
R7337:Trpm5
|
UTSW |
7 |
142,642,756 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7513:Trpm5
|
UTSW |
7 |
142,635,572 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7560:Trpm5
|
UTSW |
7 |
142,634,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7801:Trpm5
|
UTSW |
7 |
142,638,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7961:Trpm5
|
UTSW |
7 |
142,634,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8009:Trpm5
|
UTSW |
7 |
142,634,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8189:Trpm5
|
UTSW |
7 |
142,635,575 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8441:Trpm5
|
UTSW |
7 |
142,626,171 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8507:Trpm5
|
UTSW |
7 |
142,632,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8825:Trpm5
|
UTSW |
7 |
142,636,753 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9443:Trpm5
|
UTSW |
7 |
142,638,860 (GRCm39) |
missense |
probably benign |
|
|
R9577:Trpm5
|
UTSW |
7 |
142,633,131 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9608:Trpm5
|
UTSW |
7 |
142,633,148 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0022:Trpm5
|
UTSW |
7 |
142,636,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGGTAGCCCTGACTCTCTC -3'
(R):5'- AGCAGGTACCAGTCTCGATG -3'
Sequencing Primer
(F):5'- GCGCTATCCCTTCTAGCTCAG -3'
(R):5'- AGGTACCAGTCTCGATGTTCTCATG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation